Changes in levels of fractional exhaled and nasal nitric oxide after treatment in allergic rhinitis

Purpose@#Recent studies have reported that nasal nitric oxide (NO) increases in patients with allergic rhinitis (AR) and bronchial asthma (BA), and can be used as a noninvasive test to determine treatment efficacy. We aimed to investigate the changes in fractional exhaled NO (FeNO) and nasal NO levels before and after treatment in patients with AR and asthma. @*Methods@#Children aged 6–18 years who visited Dong-A University Hospital from August 2013 to July 2014 were treated for mildpersistent or severe-intermittent AR according to Allergic Rhinitis and its Impact on Asthma guidelines. FeNO and nasal NO were measured using NObreath. Among all patients, rhinitis was treated for 1 month, and the results were evaluated in patients with improved AR (n = 31), improved AR+BA (n = 23), and control (n = 19) groups. @*Results@#Sex, age, body mass index, allergy, serum total eosinophil count and immunoglobulin E, erythrocyte sedimentation rate, and C-reactive protein showed no intergroup differences before or after treatment. Nasal NO before treatment was higher in the BA+AR and AR groups than controls (P = 0.005), but there was no difference between disease groups after treatment. Both groups showed a significant decrease in nasal NO after treatment compared with measurements before treatment (AR, P = 0.044; AR+BA, P = 0.004). @*Conclusion@#Nasal NO can be effectively used as a noninvasive test for clinical efficacy because it was significantly reduced by improving symptoms in AR patients with and without asthma.

Video-oculographic Analysis in Nystagmus Patients

Purpose@#To evaluate the usefulness of video-oculographic waveform analysis in nystagmus patients. @*Methods@#We carried out an observational case study in 18 patients (age, 7-32 years) with nystagmus who visited our clinic regularly for more than 1 year. Video-oculography (VOG) recording was performed (SLVNG®; SLMED, Seoul, Korea/3D Video-Oculography®; SMI, Teltow, Germany), and the velocity, peak velocity, and frequency of ocular movement were evaluated. The results of VOG analysis were compared to the diagnosis based on clinical examination and video recording. @*Results@#Eleven patients showed corresponding results, while the results differed between presumed diagnosis by VOG waveform analysis and clinical diagnosis in seven patients. Two of the discordant group showed additional waveforms that were not found on clinical examination. In addition, the number of inverse cases was two. The VOG waveform results corresponded to the diagnosis based on video recording in 16 patients. @*Conclusions@#Video-oculography is useful for diagnosis and management of nystagmus patients as it is noninvasive, comfortable, and can be performed in patients with difficulties with electronystagmography, such as pediatric patients. In addition, its waveform analysis and quantification are reliable taking into consideration diagnosis based on clinical examination and video recording.

Regressed Retinal Astrocytic Hamartomas in Tuberous Sclerosis by Mammalian Target of Rapamycin Inhibitor (Everolimus) Treatment

Purpose@#We report a case of regressed retinal astrocytic hamartomas (RAHs) in tuberous sclerosis complex (TSC) patients by mammalian target of rapamycin inhibitor (everolimus) treatment. Case summary: A 12-year-old girl diagnosed with TSC visited for regular checkups. The patient had undergone regular fundus examinations every year after the finding of multiple RAHs in both eyes in the initial screening at 3 months of age. There was no change in the size or thickness of the lesions until she reached 10 years of age. Two months later, the patient started systemic everolimus (5 mg, AFINITOR®, Novartis, Basel, Switzerland) treatment for 17 months under the care of a pediatric neurologist for seizure control. Subsequent fundus examination and measurements by optical coherence tomography showed improvement in the maximal thickness of all lesions, specifically, a reduction of 25%. @*Conclusions@#mTOR inhibitors are targeted agents that regress systemic hamartomas and control convulsions without serious side effects in TSC patients. The particular one used in this study, Afinitor everolimus, reduced the RAH size in our patient. Thus, in cases where an RAH affects vision due to its location, everolimus can considered as a therapeutic option.

Video-oculographic Analysis in Nystagmus Patients

Purpose@#To evaluate the usefulness of video-oculographic waveform analysis in nystagmus patients. @*Methods@#We carried out an observational case study in 18 patients (age, 7-32 years) with nystagmus who visited our clinic regularly for more than 1 year. Video-oculography (VOG) recording was performed (SLVNG®; SLMED, Seoul, Korea/3D Video-Oculography®; SMI, Teltow, Germany), and the velocity, peak velocity, and frequency of ocular movement were evaluated. The results of VOG analysis were compared to the diagnosis based on clinical examination and video recording. @*Results@#Eleven patients showed corresponding results, while the results differed between presumed diagnosis by VOG waveform analysis and clinical diagnosis in seven patients. Two of the discordant group showed additional waveforms that were not found on clinical examination. In addition, the number of inverse cases was two. The VOG waveform results corresponded to the diagnosis based on video recording in 16 patients. @*Conclusions@#Video-oculography is useful for diagnosis and management of nystagmus patients as it is noninvasive, comfortable, and can be performed in patients with difficulties with electronystagmography, such as pediatric patients. In addition, its waveform analysis and quantification are reliable taking into consideration diagnosis based on clinical examination and video recording.

Regressed Retinal Astrocytic Hamartomas in Tuberous Sclerosis by Mammalian Target of Rapamycin Inhibitor (Everolimus) Treatment

Purpose@#We report a case of regressed retinal astrocytic hamartomas (RAHs) in tuberous sclerosis complex (TSC) patients by mammalian target of rapamycin inhibitor (everolimus) treatment. Case summary: A 12-year-old girl diagnosed with TSC visited for regular checkups. The patient had undergone regular fundus examinations every year after the finding of multiple RAHs in both eyes in the initial screening at 3 months of age. There was no change in the size or thickness of the lesions until she reached 10 years of age. Two months later, the patient started systemic everolimus (5 mg, AFINITOR®, Novartis, Basel, Switzerland) treatment for 17 months under the care of a pediatric neurologist for seizure control. Subsequent fundus examination and measurements by optical coherence tomography showed improvement in the maximal thickness of all lesions, specifically, a reduction of 25%. @*Conclusions@#mTOR inhibitors are targeted agents that regress systemic hamartomas and control convulsions without serious side effects in TSC patients. The particular one used in this study, Afinitor everolimus, reduced the RAH size in our patient. Thus, in cases where an RAH affects vision due to its location, everolimus can considered as a therapeutic option.

Effect of Ultra-high-definition Television on Ocular Surface and Fatigue

Purpose@#To investigate the effects of watching ultra-high-definition television (UHD TV) on subjective ocular fatigue and objective ocular surface indices. @*Methods@#A total of 76 volunteers were recruited for this study. Subjects watched UHD TV for 10 minutes at a viewing distance of 110 cm. Best-corrected visual acuity, refractive errors, tear break-up time, corneal staining grading, conjunctival redness grading by slit-lamp examination, tear meniscus measurement by anterior segment optical coherence tomography, and ocular symptom scores were obtained before and immediately after watching UHD TV. Subgroup analyses were conducted according to participant age (old age group >50 years vs. young age group ≤50 years) and dry-eye syndrome (presence vs.absence). The relationship between subjective and objective indices was evaluated. @*Results@#The mean age of subjects was 39.6 ± 12.4 years. Watching UHD TV induced a decrease in tear break-up time in the non-dry-eye group (p < 0.001) but not in the dry-eye group (p= 0.726). Corneal staining grades increased in all subgroups, and the changes were particularly larger in the older group (p = 0.038). The increase in ocular symptom scores was larger in the dry-eye group (p = 0.08) and in the older group (p = 0.016). The decrease in tear break-up time and ocular symptom scores after watching UHD TV was significantly correlated with tear break-up time. @*Conclusions@#Tear break-up time significantly decreased in non-dry-eye subjects after watching UHD TV. Subjective ocular discomfort increased significantly in subjects over the age of 50 and in participants with dry-eye syndrome.

Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age. We retrospectively reviewed the clinical course of nine patients diagnosed with GLUT1 deficiency, based on SLC2A1 mutations and/or glucose concentration in cerebrospinal fluid. The patients included eight boys and one girl who initially presented with seizures (44%, 4/9) or delayed development (44%, 4/9) before 2 years of age, except for one patient who presented with apnea as a neonate. Over the clinical course, all of the children developed seizures of the mixed type, including absence seizures and generalized tonic–clonic seizures. About half (56%, 5/9) showed movement disorders such as ataxia, dystonia, or dyskinesia. We observed an evolution of phenotype over time, although this was not uniform across all patients. Only one child had microcephaly. In five patients, ketogenic diet was effective in reducing seizures and movement symptoms, and the patients exhibited subjective improvement in cognitive function. Diagnosing GLUT1 deficiency can be challenging due to the phenotypic variability and evolution. A high index of clinical suspicion in pediatric and even older patients with epilepsy or movement disorders is key to the early diagnosis and treatment, which can improve the patient's quality of life.

Reduction of Blue Light Emission in Internet-protocol Television and Its Effect on Ocular Fatigue

PURPOSE: The blue light emitted from electronic devices may be harmful to the eye. We investigated whether internet-protocol television (TV) with lowered blue light emission reduced ocular fatigue. METHODS: A total of 98 healthy subjects were recruited. They watched an animated movie (A) and an identical version except for reduced blue light (B), sequentially for 1 hour in random order. Before and after watching the movies, we measured the distance and near refraction and tear break-up time objectively. Ocular discomfort score and the earliest onset time of the ocular fatigue symptoms were also measured using our specially designed subjective ocular discomfort scale. RESULTS: The median age of the participants was 28.5 years, and there were 56 females out of 98 total participants. Both distance and near refraction were not significantly different before versus after watching the movies, nor between viewing movies A and B. However, the accommodative amplitude measured by subtracting the near refraction from the distance refraction was found to be greater after watching movie B compared with movie A in a subset of subjects with hyperopia [1.92 vs. 1.72 diopters (D) for the right eye and 2.14 vs. 1.83 D for the left eye; p = 0.04 and p < 0.01, respectively]. The ocular discomfort score was lower (15.40 vs. 12.85; p = 0.10), but not significantly, and the earliest ocular fatigue onset time was significantly delayed (23.48 vs. 34.51 minutes; p < 0.01), after watching movie B. CONCLUSIONS: Reduction of blue light emission alleviated ocular fatigue caused by TV displays. Watching TV with lower blue light may provide benefits to hyperopic individuals by reducing eye strain and improving the accommodative amplitude.

Paroxysmal Dyskinesia in Children: from Genes to the Clinic

BACKGROUND AND PURPOSE: Paroxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children. METHODS: Fifty-five patients (16 from 14 families and 39 sporadic cases) were enrolled. We classified them into three phenotypes: paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED). We sequenced PRRT2, SLC2A1, and MR-1 in these patients and reviewed their medical records. RESULTS: Forty patients were categorized as PKD, 14 as PNKD, and 1 as PED. Thirty-eight (69.1%) patients were male, and their age at onset was 8.80±4.53 years (mean±SD). Dystonia was the most common symptom (38 patients, 69.1%). Pathogenic variants were identified in 20 patients (36.4%): 18 with PRRT2 and 2 with SLC2A1. All of the patients with PRRT2 mutations presented with PKD alone. The 2 patients carrying SLC2A1 mutations presented as PNKD and PED, and one of them was treated effectively with a ketogenic diet. Six mutations in PRRT2 (including 2 novel variants) were identified in 9 of the 13 tested families (69.2%) and in 8 patients of the 25 tested sporadic cases (32.0%). There were no significant differences in clinical features or drug response between the PRRT2-positive and PRRT2-negative PKD groups. CONCLUSIONS: This study has summarized the clinical and genetic heterogeneity of paroxysmal dyskinesia in children. We suggest that pediatric paroxysmal dyskinesia should not be diagnosed using clinical features alone, but by combining them with broader genetic testing.

Anti-Inflammatory and Anti-Superbacterial Activity of Polyphenols Isolated from Black Raspberry

The fruit of the black raspberry (Rubus coreanus Miquel) has been employed in traditional medicine, and recent studies have demonstrated its measureable biological activities. However, the root of the black raspberry has not been studied. Therefore, in this study, we evaluated the anti-inflammatory and antibacterial properties of the root and unripe fruit polyphenols of the black raspberry. Both polyphenols proved to have anti-inflammatory activity as evidenced by the decreased nitric oxide (NO), cytokines (IL-1beta , IL-6, and IL-10) and prostaglandin E2 (PGE2) levels in lipopolysaccharide (LPS)-stimulated RAW 264.7 murine macrophages. However, root polyphenols showed stronger anti-inflammatory activity than fruit polyphenols. LPS-induced mRNA and protein expressions of inducible NO synthase (iNOS) and cyclooxygenase (COX)-2 levels were also decreased, confirming the anti-inflammatory activity. Root polyphenols showed lethal activity against methicillin-resistant Staphylococcus aureus (MRSA), carbapenem-resistant Acinetobacter baumannii (CRAB), and Bacillus anthracis. In contrast, the black raspberry fruit did not demonstrate these properties. These data provide the first demonstration that black raspberry root has potential anti-inflammatory and anti-superbacterial properties that can be exploited as alternatives for use in the food and cosmetic industries and/or as pharmaceuticals.

Effect of Intermittent Cyclic Etidronate Treatment on Bone Mineral Density of Postmenopausal Osteoporosis: Comparison with Continuous Estrogen Therapy / 대한류마티스학회지

No abstract available.